GDF5 - growth differentiation factor 5 Gene

Also Known as OS5; LAP4; BDA1C; BMP14; CDMP1; LAP-4; SYM1B; SYNS2; BMP-14; DUPANS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8200

About GDF5

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,433,347-35,454,749 (from NCBI)

This gene has 2 transcripts (splice variants), 194 orthologues, 31 paralogues and is associated with 20 phenotypes. Biased expression in salivary gland (RPKM 2.0), fat (RPKM 0.7) and 7 other tissues.

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

GDF5 Products (4)

mRNA	Protein	Name
NM_000557.5	NP_000548.2	growth/differentiation factor 5 preproprotein
NM_001319138.2	NP_001306067.1	growth/differentiation factor 5 preproprotein
NM_000557.5	NP_000548.2	growth/differentiation factor 5 preproprotein
NM_001319138.2	NP_001306067.1	growth/differentiation factor 5 preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables BMP binding	IPI IPI: Inferred from physical interaction	21976273	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25174448	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16127465	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	21976273	GOA
involved in chondroblast differentiation	IDA IDA: Inferred from direct assay	25092592	GOA
involved in negative regulation of chondrocyte differentiation	IDA IDA: Inferred from direct assay	21976273	GOA
involved in negative regulation of epithelial cell proliferation	IDA IDA: Inferred from direct assay	9950587	GOA
involved in positive regulation of BMP signaling pathway	IDA IDA: Inferred from direct assay	24098149	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	21976273	GOA
involved in positive regulation of chondrocyte differentiation	IDA IDA: Inferred from direct assay	21976273	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GDF5 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
400
501 a.a.

Protein Preferred Names	Protein Names
growth/differentiation factor 5	LPS-associated protein 4

GDF5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GDF5	P43026	BMPR1A	Homo sapiens	P36894	X-Ray Diffraction	21543859
Intra	GDF5	P43026	BMPR1A	Homo sapiens	P36894	SPR	16127465
Intra	GDF5	P43026	BMPR1A	Homo sapiens	P36894	SPR	19229295
Intra	GDF5	P43026	BMPR2	Homo sapiens	Q13873	SPR	19229295
Intra	GDF5	P43026	BMPR1B	Homo sapiens	O00238	X-Ray Diffraction	19229295
Intra	GDF5	P43026	BMPR1B	Homo sapiens	O00238	SPR	19229295
Intra	GDF5	P43026	CALML5	Homo sapiens	Q9NZT1	Anti Tag CoIP	33961781
Intra	GDF5	P43026	FABP4	Homo sapiens	P15090	Anti Tag CoIP	28514442
Intra	GDF5	P43026	CALML5	Homo sapiens	Q9NZT1	Anti Tag CoIP	28514442
Intra	GDF5	P43026	KPRP	Homo sapiens	Q5T749	Anti Tag CoIP	33961781
Intra	GDF5	P43026	KPRP	Homo sapiens	Q5T749	Anti Tag CoIP	28514442
Intra	GDF5	P43026	DUSP14	Homo sapiens	O95147	Anti Tag CoIP	28514442
Intra	GDF5	P43026	DUSP14	Homo sapiens	O95147	Anti Tag CoIP	33961781
Intra	GDF5	P43026	CRYAB	Homo sapiens	P02511	Anti Tag CoIP	33961781
Intra	GDF5	P43026	CRABP2	Homo sapiens	P29373	Anti Tag CoIP	33961781
Intra	GDF5	P43026	PKP3	Homo sapiens	Q9Y446	Anti Tag CoIP	33961781
Intra	GDF5	P43026	FABP4	Homo sapiens	P15090	Anti Tag CoIP	33961781
Intra	GDF5	P43026	CRYAB	Homo sapiens	P02511	Anti Tag CoIP	28514442
Intra	GDF5	P43026	CRABP2	Homo sapiens	P29373	Anti Tag CoIP	28514442
Intra	GDF5	P43026	PKP3	Homo sapiens	Q9Y446	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GDF5 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72633	GDF-5 Protein, Human	P43026 (A382-R501)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P700023AF	Animal-Free GDF-5 Protein, Human (His)	P43026 (A382-R501)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Brachydactyly, Type C	Brachydactyly Type C BDC Brachydactyly Haws Type Brachydactyly, Haws Type Brachydactyly C
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
Acromesomelic Dysplasia 2a	Chondrodysplasia, Grebe Type Acromesomelic Dysplasia, Grebe Type Grebe Chondrodysplasia Amdg Grebe Syndrome AMD2A Grebe Dysplasia Achondrogenesis, Brazilian Achondrogenesis, Type Ii, Formerly Acromesomelic Dysplasia-2a Achondrogenesis Type Ii Brazilian Achondrogenesis Acromesomelic Chondrodysplasia, Grebe Type
Acromesomelic Dysplasia 2b	Fibular Hypoplasia And Complex Brachydactyly Du Pan Syndrome AMD2B Dupans Acromesomelic Dysplasia-2b Fibular Aplasia-Complex Brachydactyly Syndrome
Acromesomelic Dysplasia 2c	Acromesomelic Dysplasia, Hunter-Thompson Type Acromesomelic Dysplasia 2c, Hunter-Thompson Type AMD2C Acromesomelic Dwarfism Amdh Acromesomelic Dwarfism Acromesomelic Dysplasia-2c Acromesomelic Dysplasia Hunter Thompson Type Acromesomelic Chondrodysplasia, Hunter-Thompson Type Amdh Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson Acromesomelic Dysplasia Hunter-Thompson Type
Symphalangism, Proximal, 1b	SYM1B Symphalangism, Proximal 1b
Multiple Synostoses Syndrome 2	SYNS2
Brachydactyly, Type A1, C	Brachydactyly Type A1c BDA1C Brachydactyly A1, C Brachydactyly A1c Brachydactyly Type A1 C
Angel-Shaped Phalangoepiphyseal Dysplasia	ASPED Angel-Shaped Phalango-Epiphyseal Dysplasia Angel Shaped Phalangoepiphyseal Dysplasia
Multiple Synostoses Syndrome	Symphalangism-Brachydactyly Syndrome Deafness-Hermann Type Symphalangism Syndrome Facio-Audio-Symphalangism Hearing Loss-Hermann Type Symphalangism Syndrome Wl Syndrome Multiple Synostosis Syndrome
Proximal Symphalangism	Cushing'S Symphalangism Symphalangism, Proximal Hereditary Absence Of Proximal Interphalangeal Joints Strasburger-Hawkins-Eldridge Syndrome Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b Vessel'S Syndrome Symphalangism, Cushing Type
Brachydactyly, Type A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Acromesomelic Dysplasia	Acromesomelic Dwarfism Dysplasia, Acromesomelic Acromesomelic Dysplasia Hunter-Thompson Type
Brachydactyly
Osteoarthritis	Osteoarthrosis Degenerative Joint Disease Hypertrophic Arthritis Arthropathy Degenerative Polyarthritis Degenerative Arthritis Osteoarthrosis And Allied Disorder Arthritis, Degenerative Oa Osteoarthritis Deformans Osteoarthrosis Deformans Kashin-Beck Disease
Spondylolisthesis	Slipped Vertebrae Acquired Spondylolisthesis
Synostoses, Tarsal, Carpal, And Digital	Calcaneonavicular Coalition Multiple Synostosis Syndrome Synostoses, Tarsal, Carpal And Digital
Tarsal-Carpal Coalition Syndrome	TCC Tarsal Carpal Coalition Syndrome Nog-Related-Symphalangism Spectrum Disorder
Microphthalmia, Isolated 4	Isolated Microphthalmia 4 MCOP4 Microphthalmia, Isolated, 4 Isolated Clinical Anophthalmia Microphthalmia, Isolated, Type 4
Leber Congenital Amaurosis 17	LCA17 Leber Congenital Amaurosis, Type 17
Brachydactyly, Type A1, D	Brachydactyly Type A1d BDA1D Brachydactyly A1, D
Synostosis
Brachydactyly, Type B2	Brachydactyly Type B2 BDB2 Brachydactyly B2
Trichorhinophalangeal Syndrome, Type Iii	Trichorhinophalangeal Syndrome Type Iii TRPS3 Sugio-Kajii Syndrome Trichorhinophalangeal Syndrome Type 3 Trps 3 Tricho-Rhino-Phalangeal Syndrome 3
Sugarman Brachydactyly	Brachydactyly With Major Proximal Phalangeal Shortening Brachydactyly Of The Hands And Feet With Duplication Of The First Toes Sugarman-Hager-Kulik Syndrome Orofaciodigital Syndrome 3
Chronic Tympanitis
Klippel-Feil Syndrome 1
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
Brachydactyly, Type A4	Brachymesophalangy Ii And V Temtamy Type Brachydactyly Brachydactyly Type A4 BDA4 Brachymesophalangy 2 And 5 Brachydactyly Temtamy Type Brachydactyly, Temtamy Type
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Bone Deterioration Disease
Brachydactyly, Type B1	Brachydactyly Type B1 Brachydactyly Type B BDB1 Brachydactyly, Type B Bdb Brachydactyly B1
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Immunodeficiency 36	IMD36 Activated Phosphoinositide 3-Kinase Delta Syndrome 2 Immunodeficiency, Type 36
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Acute Tympanitis	Acute Myringitis
Cartilage Disease	Cartilage Diseases Cartilage Cartilage Disorder Chondropathy Cartilage Disorders
Bone Structure Disease
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
Acrocapitofemoral Dysplasia	ACFD Dysplasia, Acrocapitofemoral
Bone Development Disease
Klippel-Feil Syndrome	Cervical Vertebral Fusion Congenital Dystrophia Brevicollis Cervical Fusion Syndrome Klippel-Feil Deformity Autosomal Dominant Klippel-Feil Syndrome Congenital Synostosis Of Cervical Vertebrae Klippel-Feil And Turner Syndrome Klippel-Feil Deformity, Deafness And Facial Asymmetry Klippel Feil Syndrome Cervical Vertebral Fusion Syndrome Dystrophia Brevicollis Congenita Fusion Of Cervical Vertebrae Kfs Klippel-Feil Sequence Vertebral Cervical Fusion Syndrome Klippel-Feil Syndrome, Autosomal Dominant Klippel-Feil Malformation Isolated Klippel-Feil Syndrome
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Fuhrmann Syndrome Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome Fuhrmann-Rieger-De Sousa Syndrome FUHRS Fibular Aplasia Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly
Degenerative Disc Disease	Intervertebral Disc Degeneration Cervical Disc Degenerative Disorder Cervical Disc Degenerative Disease Lumbar Disc Degeneration Vertebral Disc Disease Degeneration Of Lumbar Intervertebral Disc Intervertebral Disc Disorder Discogenic Disease
Spondylolysis	Acquired Spondylolysis
Calcific Tendinitis	Calcific Tendinitis Nos
Spondylosis	Lumbar Spondylosis With Myelopathy Lumbosacral Spondylosis Without Myelopathy Spondylogenic Compression Of Lumbar Spinal Cord Spondylogenic Compression Of Thoracic Spinal Cord Spondylosis With Myelopathy Thoracic Or Lumbar Spondylosis With Myelopathy
Acromesomelic Dysplasia 1	Acromesomelic Dysplasia, Maroteaux Type Amdm Acromesomelic Dysplasia 1, Maroteaux Type AMD1 St. Helena Dysplasia Acromesomelic Dysplasia-1 Acromesomelic Dysplasia Maroteaux Type Acromesomelic Dwarfism Maroteux Type Dysplasia, Acromesomelic, Type 1, Maroteaux Acromesomelic Dysplasia Hunter-Thompson Type
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Acromicric Dysplasia	ACMICD Acromicric Skeletal Dysplasia Dysplasia, Acromicric
Lacrimoauriculodentodigital Syndrome	Ladd Syndrome Levy-Hollister Syndrome Lacrimo-Auriculo-Dento-Digital Syndrome LADD Lacrimoauriculodento-Digital Syndrome Levy Hollister Syndrome Lard Syndrome Lacrimoauriculoradiodental Syndrome LADDS Congenital Duodenal Obstruction Due To Malrotation Of Intestine
Dysostosis	Dysostoses
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Enophthalmos
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05355	GDF5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174775	Human BMPR1A mRNA		/	Unkown
HY-RS18243	Gdf5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24722	Gdf5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GDF5	VGNC	VGNC:29303
Felis catus	GDF5	VGNC	VGNC:80108
Macaca mulatta	GDF5	VGNC	VGNC:107794
Canis familiaris	GDF5	VGNC	VGNC:41163
Rattus norvegicus	GDF5	RGD	RGD:620102
Mus musculus	GDF5	MGD	MGI:95688
Others	GDF5	NCBI